Variant report

Variant	rs469981
Chromosome Location	chr22:29548079-29548080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29444708..29447348-chr22:29547700..29550186,2	K562	blood:
2	chr22:29547323..29550128-chr22:29627116..29629585,2	K562	blood:
3	chr22:29547186..29550540-chr22:29600434..29604790,4	K562	blood:
4	chr22:29468223..29470977-chr22:29546508..29548463,2	K562	blood:
5	chr22:29547025..29550393-chr22:29551126..29554117,6	K562	blood:
6	chr22:29464232..29466392-chr22:29545552..29548185,2	K562	blood:
7	chr22:29468094..29470256-chr22:29547375..29550121,2	K562	blood:
8	chr22:29442673..29444678-chr22:29547602..29550105,2	K562	blood:
9	chr22:29488253..29490159-chr22:29547499..29549684,2	K562	blood:
10	chr22:29478819..29480764-chr22:29547002..29549187,2	K562	blood:
11	chr22:29508205..29511663-chr22:29545622..29548558,3	K562	blood:
12	chr22:29472899..29476008-chr22:29545567..29548841,3	K562	blood:
13	chr22:29477953..29480319-chr22:29546529..29549187,2	K562	blood:
14	chr22:29277682..29280421-chr22:29547829..29550165,4	K562	blood:
15	chr22:29545744..29548830-chr22:29599572..29603786,4	K562	blood:
16	chr22:29428793..29430315-chr22:29546051..29548231,2	K562	blood:
17	chr22:29458794..29462861-chr22:29545928..29550252,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs132281	0.87[EUR][1000 genomes]
rs132283	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132286	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132294	0.83[EUR][1000 genomes]
rs132295	0.83[EUR][1000 genomes]
rs469982	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
3	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29536600-29548200	Weak transcription	Fetal Kidney	kidney
5	chr22:29537200-29548200	Weak transcription	Fetal Brain Male	brain
6	chr22:29538400-29548200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29541000-29548200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:29542000-29548200	Weak transcription	NHDF-Ad	bronchial
9	chr22:29542000-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:29542200-29550600	Weak transcription	Gastric	stomach
11	chr22:29543400-29550200	Weak transcription	Liver	Liver
12	chr22:29543600-29548200	Weak transcription	Fetal Brain Female	brain
13	chr22:29543800-29548200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:29544200-29550000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29544400-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:29544400-29550400	Weak transcription	Esophagus	oesophagus
17	chr22:29544800-29550800	Enhancers	Placenta	Placenta
18	chr22:29545000-29548600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr22:29545400-29548200	Enhancers	Brain Anterior Caudate	brain
20	chr22:29545400-29549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:29545400-29549400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:29545400-29551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr22:29545600-29548200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:29545600-29548600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:29545600-29549200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:29545600-29550400	Weak transcription	Fetal Intestine Large	intestine
27	chr22:29545600-29550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29545800-29549200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:29545800-29549400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:29545800-29549600	Enhancers	Fetal Muscle Trunk	muscle
31	chr22:29545800-29549800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr22:29546000-29550400	Weak transcription	Aorta	Aorta
33	chr22:29546000-29550600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr22:29546200-29550000	Weak transcription	Dnd41	blood
35	chr22:29546200-29550200	Weak transcription	Fetal Heart	heart
36	chr22:29546200-29550400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:29546400-29548200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr22:29546600-29548200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr22:29546800-29548200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:29546800-29550000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:29546800-29550200	Weak transcription	Brain Angular Gyrus	brain
42	chr22:29546800-29550200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr22:29546800-29550400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr22:29546800-29551000	Enhancers	Fetal Muscle Leg	muscle
45	chr22:29547000-29549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr22:29547000-29549800	Weak transcription	Thymus	Thymus
47	chr22:29547000-29550000	Weak transcription	Fetal Thymus	thymus
48	chr22:29547000-29550000	Weak transcription	HepG2	liver
49	chr22:29547000-29550200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:29547000-29550400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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